G35D (p.Gly35Asp) variant of CACNA1A (O00555)
G35D (p.Gly35Asp) in CACNA1A (O00555) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
G35D (p.Gly35Asp) variant details
- p.Gly35Asp
- ExAC rs756090706
- gnomAD rs756090706
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.47
- MetaLR 0.90
- MetaSVM 0.66
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available